Xiao-Tian Sun1, Liang-Hao Hu, Tian Xia, Lin-Li Shi, Chang Sun, Yi-Qi Du, Wei Wang, Jian-Min Chen, Zhuan Liao, Zhao-Shen Li. 1. From the *Department of Gastroenterology, Changhai Hospital, Second Military Medical University; †Second Team, School of Clinical Medicine, Second Military Medical University; ‡Department of Gastroenterology, Shanghai Ruijin Hospital, Shanghai, China; §Institut National de la Santé et de la Recherche Médicale (INSERM), and ∥Établissement Français du Sang (EFS)-Bretagne, Brest, France.
Abstract
OBJECTIVES: Hereditary pancreatitis (HP) has been rarely investigated in China. We aimed to describe clinical features and mutation frequency of Chinese patients with HP and to evaluate outcomes of endoscopic treatments. METHODS: Inpatients diagnosed with HP from January 1995 to March 2013 were included. Demographic and clinical data including first onset age, age at diagnosis, sex, main symptoms, radiological findings, and outcomes of endoscopic treatments were collected. Mutations in serine protease inhibitor Kazal type 1 (SPINK1), PRSS1, and cystic fibrosis transmembrane conductance regulator (CFTR) were analyzed. RESULTS: A total of 22 inpatients with HP (male, 12; female, 10) participated in this study. Mean (SD) age at first onset and at diagnosis were 24.5 (11.9) years and 29.1 (11.2) years, respectively. The predominant radiological feature was pancreatic calcifications. Thirty-nine endoscopic retrograde cholangiopancreatography procedures were successfully performed on 19 cases. In the final long-term follow-up, 21 patients got complete or incomplete remission after endoscopic retrograde cholangiopancreatography and/or surgery. Genetic analyses were available in 20 patients, and mutation rates of R122H, N29I, and A16V in PRSS1 were 60%, 25% and 5%, respectively. CONCLUSIONS: As compared with previous studies, our patient cohort, with a relatively higher frequency of R122H mutation, showed a much lower surgery rate, and endoscopic interventions may be recommended to be the first-line treatment.
OBJECTIVES:Hereditary pancreatitis (HP) has been rarely investigated in China. We aimed to describe clinical features and mutation frequency of Chinese patients with HP and to evaluate outcomes of endoscopic treatments. METHODS: Inpatients diagnosed with HP from January 1995 to March 2013 were included. Demographic and clinical data including first onset age, age at diagnosis, sex, main symptoms, radiological findings, and outcomes of endoscopic treatments were collected. Mutations in serine protease inhibitor Kazal type 1 (SPINK1), PRSS1, and cystic fibrosis transmembrane conductance regulator (CFTR) were analyzed. RESULTS: A total of 22 inpatients with HP (male, 12; female, 10) participated in this study. Mean (SD) age at first onset and at diagnosis were 24.5 (11.9) years and 29.1 (11.2) years, respectively. The predominant radiological feature was pancreatic calcifications. Thirty-nine endoscopic retrograde cholangiopancreatography procedures were successfully performed on 19 cases. In the final long-term follow-up, 21 patients got complete or incomplete remission after endoscopic retrograde cholangiopancreatography and/or surgery. Genetic analyses were available in 20 patients, and mutation rates of R122H, N29I, and A16V in PRSS1 were 60%, 25% and 5%, respectively. CONCLUSIONS: As compared with previous studies, our patient cohort, with a relatively higher frequency of R122H mutation, showed a much lower surgery rate, and endoscopic interventions may be recommended to be the first-line treatment.
Authors: Emily R Perito; Tonya M Palermo; John F Pohl; Maria Mascarenhas; Maisam Abu-El-Haija; Bradley Barth; Melena D Bellin; Douglas S Fishman; Steven Freedman; Cheryl Gariepy; Matthew Giefer; Tanja Gonska; Melvin B Heyman; Ryan W Himes; Sohail Z Husain; Tom Lin; Quin Liu; Asim Maqbool; Brian McFerron; Veronique D Morinville; Jaime D Nathan; Chee Y Ooi; Sue Rhee; Sarah Jane Schwarzenberg; Uzma Shah; David M Troendle; Steven Werlin; Michael Wilschanski; Yuhua Zheng; Miriam Bridget Zimmerman; Mark Lowe; Aliye Uc Journal: J Pediatr Gastroenterol Nutr Date: 2020-01 Impact factor: 2.839